Canonical Allele Identifier: CA364431083

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2249509
• ClinVar RCV Id: RCV002767908
• dbSNP Id: rs139442289
• gnomAD v2: 6-51523984-T-C
• gnomAD v3: 6-51659186-T-C
• gnomAD v4: 6-51659186-T-C
• MyVariant Identifiers: chr6:g.51523984T>C (hg19) ; chr6:g.51659186T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659186T>C , CM000668.2:g.51659186T>C	GRCh38
NC_000006.11:g.51523984T>C , CM000668.1:g.51523984T>C	GRCh37
NC_000006.10:g.51631943T>C	NCBI36
NG_008753.1:g.433440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10940A>G MANE Select	ENSP00000360158.3:p.His3647Arg
ENST00000371117.7:c.10940A>G	ENSP00000360158.3:p.His3647Arg
NM_138694.3:c.10940A>G	NP_619639.3:p.His3647Arg
XM_011514679.1:c.10940A>G	XP_011512981.1:p.His3647Arg
XM_011514680.1:c.10940A>G	XP_011512982.1:p.His3647Arg
XM_011514681.1:c.10811A>G	XP_011512983.1:p.His3604Arg
XM_011514682.1:c.10802A>G	XP_011512984.1:p.His3601Arg
XM_011514683.1:c.10298A>G	XP_011512985.1:p.His3433Arg
XM_011514684.1:c.10229A>G	XP_011512986.1:p.His3410Arg
XM_011514687.1:c.10157-9966A>G	XP_011512989.1:n.10157-9966A>G
XM_011514690.1:c.5015A>G	XP_011512992.1:p.His1672Arg
XM_011514691.1:c.5015A>G	XP_011512993.1:p.His1672Arg
XR_926870.1:n.535+6813T>C
XR_926871.1:n.403+6813T>C
XR_926872.1:n.535+6813T>C
XM_011514680.3:c.10940A>G	XP_011512982.1:p.His3647Arg
XM_011514682.3:c.10802A>G	XP_011512984.1:p.His3601Arg
XM_011514683.3:c.10298A>G	XP_011512985.1:p.His3433Arg
XM_011514684.3:c.10229A>G	XP_011512986.1:p.His3410Arg
XM_011514690.3:c.5015A>G	XP_011512992.1:p.His1672Arg
XM_011514691.3:c.5015A>G	XP_011512993.1:p.His1672Arg
XM_017010944.2:c.10940A>G	XP_016866433.1:p.His3647Arg
XM_017010945.2:c.10865A>G	XP_016866434.1:p.His3622Arg
XM_017010946.2:c.10745A>G	XP_016866435.1:p.His3582Arg
XM_017010947.2:c.10676A>G	XP_016866436.1:p.His3559Arg
XM_017010948.2:c.10229A>G	XP_016866437.1:p.His3410Arg
XM_017010949.2:c.9080A>G	XP_016866438.1:p.His3027Arg
XR_001743469.1:n.11216A>G
XR_001744157.1:n.3145+6813T>C
XR_926870.2:n.3145+6813T>C
XR_926871.2:n.3013+6813T>C
XR_926872.2:n.3145+6813T>C
NM_138694.4:c.10940A>G MANE Select	NP_619639.3:p.His3647Arg